Detection of three common α-thalassemia in non-deletion types and six common thalassemia in deletion types by QF-PCR

摘要

Objective: Thalassemia is one of the most common monogenic hereditary diseases in tropical and subtropical regions. An effective way to avoid the birth of severe thalassemia patients is to strengthen the thalassemia screening of couples before wives are pregnant. Thalassemia gene carriers can be diagnosed by molecular biology in order to conduct effective guidance for fertility. Designs and methods: For --SEA and --THAI of α-thalassemia and HPFH-SEA and DBT of β-thalassemia, we design the fGap-PCR primer; for αCSα, αQSα and αWSα, we design the fAS-PCR primer; for -α3.7and -α4.2, we design the QF-PCR primer; and lastly, we use universal primers and multiple-tailed primers to make a single-tube QF-PCR system. Results: When the QF-PCR system is used to diagnose 123 screening samples of thalassemia genotyping, the typing result is consistent with conventional diagnosis of Gap-PCR and PCR-RDB. Conclusions: Compared with conventional Gap-PCR and PCR-RDB, this QF-PCR system is easy to operate, has high precision, and can diagnose genotypes in a large scale. Its automatic operation is more suitable for the large-scale screening of the thalassemia gene.